DISEASES

Disease-gene associations mined from literature

Literature associating RBFOX2 and autosomal dominant centronuclear myopathy

RBFOX2 [ENSP00000413035]

RNA binding protein fox-1 homolog 2; RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Prevents binding of U2AF2 to the 3'-splice site. Regulates alternative splicing of tissue- specific exons and of differentially spliced exons during erythropoiesis (By similarity). RNA-binding protein that seems to act as a coregulatory factor of ER-alpha.

Synonyms:  RBFOX2,  RBFOX2p,  hRBFOX2,  B0QYV1,  B0QYY4 ...

Linkouts:  STRING  Pharos  UniProt